Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood—a case report and review of the literature
L Klingelhoefer, A Misbahuddin, T Jawad, J Mellers… - Pediatric …, 2014 - Elsevier
Background Vanishing white matter disease is caused by mutations of the eukaryotic
translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood
leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic
progressive neurological signs, with episodes of rapid, neurological, and poor prognosis,
with death in few months or years. In contrast, onset in late childhood and adult onset is rare
and is associated with long-term survival because of milder signs and slow progression …
translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood
leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic
progressive neurological signs, with episodes of rapid, neurological, and poor prognosis,
with death in few months or years. In contrast, onset in late childhood and adult onset is rare
and is associated with long-term survival because of milder signs and slow progression …
